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  Search Results: 2 unique variants retrieved



  c.6188G>C
p.(Gly2063Ala) (Legacy AA No.2041)
Variant Type:
Point
Domain:
C1
Sequence Context:
GGA > CGA
Variant Effect:
Missense
Location:
Exon 20
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6179G>T
p.(Gly2060Val) (Legacy AA No.2041)
Variant Type:
Point
Domain:
C1
Sequence Context:
GGA > GTA
Variant Effect:
Missense
Location:
Exon 20
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show